Novel application of luciferase assay for the in vitro functional assessment of KAL1 variants in three females with septo-optic dysplasia (SOD)

Affiliations

• ¹ Section of Genetics and Epigenetics in Health and Disease, Genetics and Genomic Medicine Programme, UCL Institute of Child Health, London, UK; Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Darlinghurst, NSW, Australia; St Vincent's Clinical School, UNSW Australia, Sydney, NSW, Australia.
• ² Centre for Neuroendocrinology, Royal Free Hospital and University College Medical School, University College London, London, UK; Department of Anaesthesiology, Nanjing Medical University First Affiliated Hospital, Jiangsu Province Hospital, Nanjing 210029, China.
• ³ Section of Genetics and Epigenetics in Health and Disease, Genetics and Genomic Medicine Programme, UCL Institute of Child Health, London, UK.
• ⁴ Neural Development Unit, UCL Institute of Child Health, London, UK; Centre for Endocrinology, William Harvey Research Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, John Vane Science Centre, Charterhouse Square, London, UK.
• ⁵ Division of Mathematical Biology, National Institute for Medical Research, London, UK.
• ⁶ Centre for Endocrinology, William Harvey Research Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, John Vane Science Centre, Charterhouse Square, London, UK.
• ⁷ University of Cambridge, Addenbrookes Hospital, Cambridge, UK.
• ⁸ Princess Margaret Hospital for Children, Subiaco, Western Australia, Australia.
• ⁹ Neural Development Unit, UCL Institute of Child Health, London, UK.
• ¹⁰ Centre for Neuroendocrinology, Royal Free Hospital and University College Medical School, University College London, London, UK.
• ¹¹ Section of Genetics and Epigenetics in Health and Disease, Genetics and Genomic Medicine Programme, UCL Institute of Child Health, London, UK. Electronic address: [email protected].